Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-β-thalassemia in Northeast Thailand

Blood Cells, Molecules, and Diseases

Volumn 42, Issue 1, 2009, Pages 32-35

  Nuntakarn, Lalana ^a   Fucharoen, Supan ^a   Fucharoen, Goonnapa ^a   Sanchaisuriya, Kanokwan ^a   Jetsrisuparb, Arunee ^b   Wiangnon, Surapon ^b  

^a KHON KAEN UNIVERSITY   (Thailand)

^b KHON KAEN UNIVERSITY   (Thailand)

Author keywords

thalassemia; globin gene mutation; thalassemia; G Xmn I polymorphism; Genotype phenotype correlation; Hemoglobin E

Indexed keywords

GAMMA GLOBIN; HEMOGLOBIN E;

ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE DELETION; GENETIC ANALYSIS; GENETIC COUNSELING; HEMATOLOGICAL PARAMETERS; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; THAILAND; THALASSEMIA MAJOR;

BETA-GLOBINS; BETA-THALASSEMIA; HEMOGLOBIN E; HUMANS; MUTATION; POLYMORPHISM, GENETIC; THAILAND;

EID: 57949106014     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.09.002     Document Type: Article

References (39)

1. Weatherall D.J., and Clegg J.B. Inherited hemoglobin disorders: an increasing global health problem. Bull. World Health Organ. 79 (2001) 704-712
2. Fucharoen S., and Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin 11 (1987) 65-88
3. Winichagoon P., Thonglairoam V., Fucharoen S., Wilairat P., Fukumaki Y., and Wasi P. Severity differences in β-thalassaemia/haemoglobin E syndromes: implication of genetic factors. Br. J. Haematol. 83 (1993) 633-639
4. Premawardhena A., Fisher C.A., Fathiu F., et al. Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. Lancet 357 (2001) 1945-1946
5. Fucharoen S., Ketvichit V., Pootrakul P., et al. Clinical manifestation of β-thalassemia/haemoglobin E disease. J. Pediatr. Hematol. Oncol. 22 (2000) 552-557
6. Chhotray G.P., Dash B.P., Ranjit M.R., Roshan B.C., and Mohanty D. Haemoglobin E/β-thalassemia: an experience in the Eastern Indian state of Orissa. Acta Haematol. 109 (2003) 214-216
7. Weatherall D.J., Pressley L., Wood W.G., Higgs D.R., and Clegg J.B. Molecular basis for mild forms of homozygous β-thalassaemia. Lancet 8219 (1981) 527-529
8. Gilman J.G., and Huisman T.H.J. DNA sequence variation associated with elevated fetal G gamma globin production. Blood 66 (1985) 783-787
9. Lapoumeroulie C., Castiglia L., Ruberto C., Fichera M., Amata S., Labie D., and Ragusa A. Genetic variations in human fetal globin gene microsatellites and their functional relevance. Hum. Genet. 104 (1999) 307-314
10. Thein S.L., Wainscoat J.S., Sampietro M., et al. Association of thalassaemia intermedia with a β-globin gene haplotype. Br. J. Haematol. 65 (1987) 367-373
11. Ho P.J., Hall G.W., Luo L.Y., Weatherall D.J., and Thein S.L. Beta-thalassemia intermedia: is it possible consistently to predict phenotype from genotype. Br. J. Haematol. 100 (1998) 70-78
12. Fucharoen G., Sanchaisuriya K., Sae-ung N., Dangwibul S., and Fucharoen S. A simplified screening strategy for thalassemia and haemoglobin E in rural communities of Southeast Asia. Bull. World Health Organ. 82 (2004) 364-372
13. Sanchaisuriya K., Fucharoen S., Fucharoen G., Ratanasiri T., Sanchaisuriya P., Changtrakul Y., Ukosanakarn U., Ussawaphark W., and Schelp F.P. A reliable screening protocol for thalassemia and hemoglobinopathies in pregnancy: an alternative approach to electronic blood cell counting. Am. J. Clin. Pathol. 123 (2005) 113-118
14. Fucharoen S., Fucharoen G., Ratanasiri T., Jetsrisuparp A., and Fukumaki Y. A simple non-radioactive assay for hemoglobin E gene in prenatal diagnosis. Clin. Chim. Acta 229 (1994) 197-203
15. Siriratmanawong N., Fucharoen G., Sanchaisuriya K., et al. Simultaneous PCR detection of β-thalassemia and α-thalassemia 1 (SEA type) in prenatal diagnosis of complex thalassemia syndrome. Clin. Biochem. 34 (2001) 377-380
16. Panyasai S., Fucharoen S., Surapot S., Fucharoen G., and Sanchaisuriya K. Molecular basis and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in Thailand. Haematologica 89 (2004) 777-781
17. Fucharoen S., Sanchaisuriya K., Fucharoen G., Panyasai S., Devenish R., and Luy L. Interaction of hemoglobin E and several forms of α-thalassemia in Cambodians families. Haematologica 88 (2003) 1092-1098
18. Boonsa S., Sanchaisuriya K., Fucharoen G., Wiangnon S., Jetsrisuparb A., and Fucharoen S. The diverse molecular basis of and hematological features of Hb H and AEBart's diseases in Northeast Thailand. Acta Haematol. 111 (2004) 149-154
19. anti3.7 kb) by PCR: an improved technical change. Am. J. Hematol. 53 (1996) 202-203
20. Gγ-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. Nucleic Acids Res. 18 (1990) 5245-5253
21. Fucharoen S., Fucharoen G., Sriroongrueng W., et al. Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction. Hum. Genet. 84 (1989) 41-46
22. Fucharoen G., Fucharoen S., Jetsrisuparb A., and Fukumaki Y. Molecular basis of Hb E-β-thalassemia and the origin of Hb E in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimen. Biochem. Biophys. Res. Commun. 170 (1990) 698-704
23. Colah R., Nadkarni A., Gorakshakar A., et al. Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India. Blood Cells Mol. Dis. 33 (2004) 153-157
24. Yang K.G., Kutlar F., George E., et al. Molecular characterization of β-globin gene mutations in Malay patients with HbE-β-thalassaemia and thalassaemia major. Br. J. Haematol. 72 (1989) 73-80
25. Premawardhena A., Fisher C.A., Olivieri N.F., et al. Haemoglobin E beta thalassemia in Sri Lanka. Lancet. 366 (2005) 1467-1470
26. Taher A., Isma'eel H., and Cappellini M.D. Thalassemia intermedia: revisited. Blood Cells Mol. Dis. 37 (2006) 12-20
27. Thein S.L. Genetic insights into the clinical diversity of beta thalassemia. Br. J. Haematol. 124 (2004) 264-274
28. Thein S.L., Wainscoat J.S., Sampietro M., et al. Association of thalassemia intermedia with a β-globin gene haplotype. Br. J. Haematol. 65 (1987) 367-373
29. Safaya S., Rieder R.F., Dowling C.E., Kazazian Jr. H.H., and Adams J.G. Homozygous β-thalassemia without anemia. Blood 73 (1989) 324-328
30. Winichagoon P., Fucharoen S., Chen P., and Wasi P. Genetic factors affecting clinical severity in beta thalassemia syndromes. J. Pediatr. Hematol. Oncol. 22 (2000) 573-580
31. Galanello R., and Cao A. Relationship between genotype and phenotype: thalassemia intermedia. Ann. N.Y. Acad. Sci. 850 (1998) 325-333
32. 0-thalassemia (frameshift 41/42 mutation) in Thai patients. Haematologica 86 (2001) 138-141
33. Camaschella C., and Cappellini M.D. Thalassemia intermedia. Haematologica. 80 (1995) 58-68
34. Weatherall D.J. Phenotype-genotype relationships in monogenic disease: lessons from the thalassemias. Nat. Rev. Genet. 2 (2001) 245-255
35. Olivieri N.F., Muraca G.M., O' Donnell A., Premawardhena A., Fisher C., and Weatherall D.J. Studies in haemoglobin E beta-thalassaemia. Br. J. Haematol. 141 (2008) 388-397
36. Kihm A.J., Kong Y., Hong W., et al. An abundant erythroid protein that stabilizes free α-haemoglobin. Nature 417 (2002) 758-763
37. Viprakasit V., Tanphaichitr V.S., Chinchang W., Sangkla P., Weiss M.J., and Higgs D.R. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with β thalassemia. Blood 103 (2004) 3296-3299
38. 0-thalassemia. Clin. Genet. 72 (2007) 497-505
39. A.E. Sedgewick, N. Timofeev, P. Sebastiani, et al., BCL11A is a major Hb F quantitative locus in three different populations with β-hemoglobinopathies, Blood Cells Mol. Dis. (in press), doi:10.1016/j.bcmd.2008.06.007.